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Purpose: The aim of this study is to compare the diagnostic performance in differentiating patients with glaucoma from those with presumed large physiological optic disc cupping (LPC), using optic nerve head hemoglobin levels (ONH Hb), as a screening method, versus the evaluation of general ophthalmologists. Patients and Methods: Twenty general ophthalmologists evaluated PowerPoint images of 40 patients with glaucoma and 40 presenting LPC. Presentation of patient's exams were distributed as follows: Group 1 (GI): color retinography (CR), Group 2 (GII): CR + visual field (VF), Group 3 (GIII): CR + optical coherence tomography (OCT), Group 4 (GIV): CR + VF + OCT. The Laguna ONhE software was used to estimate ONH Hb based on CR. Main outcomes were the comparison of sensitivity and accuracy between general ophthalmologists' evaluation and the glaucoma discriminant function (GDF) index from Laguna ONhE and also the agreement between examiners (Kappa statistics). Results: Laguna ONhE GDF index demonstrated higher sensitivity values (GI- 90%; GII-90%; GIII-100%; GIV-100%) comparing to all groups (GI-59%; GII-86.5%; GIII-86.5%; GIV-68.5%). In GI, in which it was observed the worst accuracy result (64.8%), we found 75% for GDF. In GII, the accuracy was 81.3% and we found 55% for GDF. The highest agreement was in GII (Kappa=0.63; 95% CI=0.53-0.72), and the lowest in GI (Kappa=0.30; 95% CI=0.20-0.39). Conclusion: Laguna ONhE software, a low-cost and non-invasive method, showed good sensitivity and great utility as a screening method in differentiating patients with glaucoma from those with LPC, compared with evaluation of general ophthalmologists.

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INTRODUCCIÓN: En la actualidad la Organización de las Naciones Unidas (ONU) como una de sus metas proyectadas al 2030 es que los alimentos sean inocuos, con seguridad alimentaria, nutritiva y suficiente, debido a que en los últimos años se ha incrementado el número de casos de Enfermedades Transmitidas por Alimentos (ETAs). La inocuidad de los alimentos es un principio básico de salud y como característica intrínseca de un alimento es que el mismo no debe causar daño a la salud. OBJETIVO: describir la importancia de la inocuidad alimentaria y los microorganismos patógenos más frecuentes que se presentan en los alimentos. METODOLOGÍA: se realizó una revisión narrativa conformada de artículos científicos a partir del año 2019 al 2023. RESULTADOS: los microoganismos que frecuentemente son causantes de las ETAs son: Salmonella, Staphylococcus aureus, E. coli, Hepatitis A, Vibrio cholerae, Listeria monocytogenes, ocasionando a nivel mundial elevados casos de diarreas relacionadas directamente con alimentos y agua contaminada, y que actualmente van en incremento. CONCLUSIÓN: las principales causas de las ETAs son por el aumento del comercio internacional de los alimentos contaminados, así como el incremento en la migración de aquellas personas que estén infectadas favoreciendo la propagación, reemergencia y aparición de microorganismos patógenos en alimentos contaminados por las malas prácticas de higiene, con la capacidad de generar infecciones, intoxicaciones y brotes en la población. Por lo anterior los organismos gubernamentales a nivel mundial, nacional y local establecen estrategias para abatir esta problemática de salud pública, pero son insuficientes, debiendo reforzar las acciones concretas de prevención y promoción.

INTRODUCTION: Due to the number of cases of Foodborne Diseases (ETAs) in recent years, the United Nations (UN) currently establishes as one of its goals for 2030 that food be safe, secure, nutritious, and sufficient. Food safety is a basic requirement, and an intrinsic characteristic of a food is that it should not negatively impact health. OBJECTIVE: to describe the importance of food safety and identify the most common pathogenic microorganisms that occur in food. Methodology: a narrative review was carried, out consisting of scientific articles from 2019 to 2023. RESULTS: the microorganisms that frequently cause ETAs are: Salmonella, Staphylococcus aureus, E. coli, Hepatitis A, Vibrio cholerae, Listeria monocytogenes, which cause frequent cases of diarrhea worldwide due to contaminated food and water, and which are currently increasing. CONCLUSION: the main causes of ETAs are the increase in international trade in contaminated foods, and the increase in the migration of people who are infected. Poor hygiene in food handling practices favor the contamination, spread, re-emergence and appearance of pathogenic microorganisms in foods, with the capacity to generate infections, poisonings and outbreaks in the population. Government agencies at the global, national, and local levels establish strategies to combat this public health problem, but they are insufficient, and specific prevention and promotion actions must be reinforced.

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Introduction: Pediatric ulcerative colitis (CUP), pediatric Crohn's disease (PCD), and pediatric inflammatory bowel disease not classifiable (PIDNCID) have clinical and psychosocial particularities that differentiate them from those of adults and may condition different therapeutic approaches due to possible nutritional, growth and developmental repercussions, representing a challenge for the pediatrician and gastroenterologist. Objective: Develop expert consensus evidence-based recommendations for the timely and safe diagnosis and treatment of Pediatric Inflammatory Bowel Disease (PID) in children under 18 years of age for professionals caring for these patients and healthcare payers. Methodology: Through a panel of experts from the Colombian College of Pediatric Gastroenterology, Hepatology and Nutrition (COLGAHNP) and a multidisciplinary group, 35 questions were asked regarding the clinical picture, diagnosis, and treatment of PID. Through a critical review and analysis of the literature with particular emphasis on the main clinical practice guidelines (CPGs), randomized clinical trials (RCTs), and meta-analyses of the last ten years, from which the experts made 77 recommendations that responded to each of the research questions with their respective practical points. Subsequently, each of the statements was voted on within the developer group, including the statements that achieved > 80%. Results: All statements scored > 80%. PID has greater extension, severity, and evolution towards stenosis, perianal disease, extraintestinal manifestations, and growth retardation compared to adult patients, so its management should be performed by multidisciplinary groups led by pediatric gastroenterologists and prepare them for a transition to adulthood. Porto's criteria allow a practical classification of PID. In CPE, we should use the Paris classification and perform ileocolonoscopy and esophagogastroduodenoscopy, since 50% have upper involvement, using the SES-CD (UCEIS/Mayo in CUP) and taking multiple biopsies. Initial labs should include inflammatory markers and fecal calprotectin and rule out intestinal infections. Treatment, induction, and maintenance of PID should be individualized and decided according to risk stratification. Follow-up should use PCDAI and PUCAI for the last 48 hours. Immunologists and geneticists should evaluate patients with early and infantile PID. Conclusion: A consensus guideline is provided with evidence-based recommendations on timely and safe diagnosis and treatments in patients with ILD.

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ABSTRACT Purpose: To compare the use of visual field and/or optical coherence tomography (OCT) combined with color retinography by non-glaucoma specialists for differentiating glaucoma from physiological cupping. Methods: Eighty patients with glaucoma or physiological cupping (40 of each) were randomized according to the examination used (GI: color retinography, GII: color retinography + visual field, GIII: color retinography + optical coherence tomography, GIV: color retinography + visual field + optical coherence tomography). Twenty non-specialist ophthalmologists diagnosed glaucoma from PowerPoint slide images, without direct patient examination. Results: Inter-examiner agreement was good for GII (ĸ: 0.63; 95%CI, 0.53-0.72), moderate for GIII (ĸ: 0.58; 95%CI, 0.48-0.68) and GIV (ĸ: 0.41; 95%CI, 0.31-0.51), and low for GI (ĸ: 0.30; 95%CI, 0.20-0.39) (p<0.001). Diagnostic accuracy was higher in GIII (15.8 ± 1.82) than GI (12.95 ± 1.46, p<0.001) and higher in GII (16.25 ± 2.02) than GI and GIV (14.10 ± 2.24) (both p<0.001). For glaucoma patients only, diagnostic accuracy in GII and GIII was superior to that in GI and GIV (both p<0.001). Sensitivity and specificity were 59% and 70.5% in GI; 86.5% and 76% in GII, 86.5% and 71.5% in GIII; and 68.5% and 72.5% in GIV, respectively. Accuracy was highest in GII (81.3% [95%CI, 77.1-84.8]), followed by GIII (79% [95%CI, 74.7-82.7]), GIV (70,5% [95%CI, 65.9-74.8]), and GI (64.8% [95%CI, 60.0-69.3]). Conclusions: Non-glaucoma specialists could not differentiate glaucoma from increased physiological cupping when using color retinography assessment alone. Diagnostic accuracy and inter-rater agreement improved significantly with the addition of visual field or optical coherence tomography. However, the use of both modalities did not improve sensitivity/specificity.(AU)

RESUMO Objetivos: Verificar a influência do campo visual e/ou tomografia de coerência óptica, quando analisados em associação à retinografia colorida, na diferenciação entre indivíduos com glaucoma daqueles com aumento fisiológico de escavação. Métodos: Oitenta pacientes com glaucoma ou aumento fisiológico de escavação (40 cada) foram randomizados de acordo com o exame testado (GI: retinografia colorida, GII: retinografia colorida + campo visual, GIII: retinografia colorida + tomografia de coerência óptica, GIV: retinografia colorida + campo visual + tomografia de coerência óptica). Vinte oftalmologistas não especialistas em glaucoma diagnosticaram glaucoma através de slides do PowerPoint, sem o exame direto do paciente. Resultados: A concordância interexaminador foi boa para o GII (ĸ: 0,63; 95%CI, 0,53-0,72), moderada para GIII (ĸ: 0,58; 95%CI, 0,48-0,68) e GIV (ĸ: 0,41; 95%CI, 0,31-0,51), e baixa para o GI (ĸ: 0,30; 95%CI, 0,20-0,39) (p<0,001). Acurácia diagnostica foi maior no GIII (15,8 ± 1,82) em comparação ao GI (12,95 ± 1,46, p<0,001) e o GII (16,25 ± 2,02) maior em comparação ao GI e GIV (14,10 ± 2,24) (para ambos, p<0,001). Para os pacientes com glaucoma, a acurácia diagnostica nos grupos GII e GIII foi superior do que em GI e GIV (ambos p<0,001). Sensibilidade e especificidade foram 59% e 70,5% no GI; 86,5% e 76% no GII, 86,5% e 71,5% no GIII; 68,5% e 72,5% no GIV, respectivamente. A acurácia foi maior no GII (81,3% [95%CI, 77,1-84,8]), seguido pelo GIII (79% [95%CI, 74,7-82,7]), GIV (70,5% [95%CI, 65,9-74,8]), e GI (64,8% [95%CI, 60,0-69,3]). Conclusões: A avaliação isolada da retinografia colorida por oftalmologistas não especialistas em glaucoma não pode diferenciar pacientes com glaucoma daqueles com aumento fisiológico de escavação. Houve aumento da acurácia diagnóstica e da concordância interobservador com o acréscimo do campo visual ou da tomografia de coerência óptica. Entretanto, o uso de ambas as modalidades não melhorou a sensibilidade/especificadade.(AU)

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PURPOSE: To compare the use of visual field and/or optical coherence tomography (OCT) combined with color retinography by non-glaucoma specialists for differentiating glaucoma from physiological cupping. METHODS: Eighty patients with glaucoma or physiological cupping (40 of each) were randomized according to the examination used (GI: color retinography, GII: color retinography + visual field, GIII: color retinography + optical coherence tomography, GIV: color retinography + visual field + optical coherence tomography). Twenty non-specialist ophthalmologists diagnosed glaucoma from PowerPoint slide images, without direct patient examination. RESULTS: Inter-examiner agreement was good for GII (ĸ: 0.63; 95%CI, 0.53-0.72), moderate for GIII (ĸ: 0.58; 95%CI, 0.48-0.68) and GIV (ĸ: 0.41; 95%CI, 0.31-0.51), and low for GI (ĸ: 0.30; 95%CI, 0.20-0.39) (p<0.001). Diagnostic accuracy was higher in GIII (15.8 ± 1.82) than GI (12.95 ± 1.46, p<0.001) and higher in GII (16.25 ± 2.02) than GI and GIV (14.10 ± 2.24) (both p<0.001). For glaucoma patients only, diagnostic accuracy in GII and GIII was superior to that in GI and GIV (both p<0.001). Sensitivity and specificity were 59% and 70.5% in GI; 86.5% and 76% in GII, 86.5% and 71.5% in GIII; and 68.5% and 72.5% in GIV, respectively. Accuracy was highest in GII (81.3% [95%CI, 77.1-84.8]), followed by GIII (79% [95%CI, 74.7-82.7]), GIV (70,5% [95%CI, 65.9-74.8]), and GI (64.8% [95%CI, 60.0-69.3]). CONCLUSIONS: Non-glaucoma specialists could not differentiate glaucoma from increased physiological cupping when using color retinography assessment alone. Diagnostic accuracy and inter-rater agreement improved significantly with the addition of visual field or optical coherence tomography. However, the use of both modalities did not improve sensitivity/specificity.

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El proceso comprensivo de las prácticas y saberes, conocido para la época como asistencia, que tuvo la mujer en Antioquia durante el proceso del parto para finales del siglo XIX, como aporte al desarrollo de las prácticas de cuidado en enfermería, se realizó mediante una investigación cualitativa hermenéutica de carácter histórico. Como resultado surgieron cuatro capítulos, en los que se ubica la mujer en su oficio de partera tradicional, reconocida y aceptada por su grupo étnico, de manera posterior la influencia política, económica, institucional y legislativa, trasladó este saber ancestral doméstico al espacio institucional, reconociendo como único, el saber científico médico de los profesores en el arte, tocólogo, partero y otras denominaciones, educados y preparados para este fin, entre tanto la mujer se certificó por el saber médico como partera, por un corto periodo, porque finalmente, fue excluida de la legislación, pero se mantuvo vigente y reconocida en la comunidad, lo cual dio como resultado a través del tiempo, dos formas de asistencia de la mujer en parto, una de ellas científica, institucional, de dominio masculino, reconocida por la legislación y la otra, tradicional, doméstica, de predominio femenino e ilegítima, hasta su reconocimiento como patrimonio cultural en el año 2016. (AU)

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Abstract Objective: The main purpose of this article is to compare the predictability of biometric results and final refractive outcomes expected in patients undergoing cataract surgery through phacoemulsification with and without associated trabeculectomy. Methods: Cataract patients who have undergone phacoemulsification surgery alone (control group) or associated with trabeculectomy (study group) screened. All surgeries were performed following standard protocol. For enrollment, biometrics calculated by IOL Master (Carl Zeiss Meditec, Inc.) biometry, refraction and intraocular pressure (IOP) before and after surgery were required. Data was compared between groups in addition to the correlation between variation of IOP and final refraction. Results: Thirty eyes per group were enrolled. Only prior IOP (p <0.001), IOP post-surgery (p = 0.01) and the difference in IOP (p <0.001) were statistically significant. Axial length, IOL diopter used, expected spherical refraction by biometrics and astigmatism pre- and post-surgery were similar in both groups (p=0.1; 0.4; 0.4; 0.5 and 0.3, respectively). Spherical predictability by biometrics within 0.25 diopters was noted in both the control group (range 0.06 ± 0.45) and study group (range 0.25 ± 0.97, p = 0.3). There was no statistical significance between groups for the difference between final cylinder and corneal astigmatism (p = 0.9), and the difference between axis of refractive and corneal astigmatism (p = 0.7). Conclusion: The biometric predictability in phacoemulsification surgery and the expected final refraction are significant, andare not modified by trabeculectomy in the combined surgeries.

Resumo Objetivo: Comparar a previsibilidade dos resultados refracionais e da biometria em pacientes submetidos à cirurgia de catarata por facoemulsificação com e sem trabeculectomia (Trec) associada. Métodos: Pacientes com catarata submetidos à cirurgia de facoemulsificação isolada (grupo controle) ou associada a Trec (catarata + glaucoma, grupo estudo) foram consecutivamente selecionados. Todas as cirurgias foram feitas seguindo protocolo padrão. Para inclusão, era necessário apresentar biometria calculada pelo biômetro IOL Master (Carl Zeiss, Meditec, Inc), refração e pressão intraocular (Pio) pré e pós-operatórios. Os dados foram comparados entre os grupos, além da correlação entre a variação da Pio e a refração final. Resultados: Foram incluídos 30 olhos por grupo. Na comparação, apenas a Pio prévia (p<0,001), Pio pós cirurgia (p=0,01) e a diferença de Pio pré-pós cirurgia (3,8 ± 4,4mmHg vs. 15,5 ± 9,3mmHg, grupos controle e estudo, respectivamente, p<0,001) foram estatisticamente significativos. Diâmetro axial, dioptria da Lio utilizada, dioptria esperada pela biometria e astigmatismo prévio e pós- cirurgia foram estatisticamente semelhantes entre os grupos (p=0,1; 0,4; 0,4; 0,5 e 0.3, respectivamente). Notou-se previsibilidade esférica pela biometria dentro de 0,25 dioptrias, tanto no grupo controle (variação de 0,06 ± 0,45), quanto no grupo estudo (variação de 0,25 ± 0,97, p=0,3). Não houve significância estatística entre os grupos para a diferença entre o cilindro final e o astigmatismo corneano em dioptrias (p=0,9), e diferença entre o eixo do astigmatismo refracional e corneano (p=0,7). Conclusão: A previsibilidade biométrica e a refração na cirurgia de facoemulsificação aferida pelo biômetro IOL Master é significativa, e não sãoalteradas na cirurgia combinada com trabeculectomia.

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Introdução: obesidade, um dos principais componentes da síndrome metabólica frequentemente associa-se à compulsão alimentar periódica. Objetivo: o objetivo do presente estudo foi avaliar a presença da compulsão alimentar periódica em mulheres com síndrome metabólica e a possível associação com parâmetros sociodemográficos, clínicos e comportamentais. Material e métodos: estudo transversal com 124 indivíduos com síndrome metabólica, divididos de acordo com presença ou ausência da compulsão alimentar periódica, classificados pela Escala de Compulsão Alimentar Periódica (ECAP). Quantificamos peso, altura, circunferência da cintura e pressão arterial. Avaliamos parâmetros comportamentais: nível de atividade física, consumo de álcool, imagem corporal, sintomas depressivos e qualidade de vida (SF-36). A avaliação laboratorial incluiu glicose, insulina, hormônio tiroestimulante, perfil lipídico e função renal. Os grupos foram comparados pelos testes Qui Quadrado e t de Student. Resultados:a média de idade das participantes foi 41±10,9 anos e a totalidade da amostra apresentava obesidade abdominal, com média da circunferência da cintura de 110±11,0 cm, 70% eram hipertensas, com média de pressão arterial sistólica de 133±13,0 mmHg e pressão arterial diastólica de 89±11,0 mmHg. Além disso, 95% eram sedentárias, 7% eram fumantes, 12% faziam uso nocivo do álcool, 98% declararam insatisfação com a imagem corporal e 62% apresentavam depressão. Observou-se presença de compulsão alimentar periódica em 57% das mulheres avaliadas. Os pacientes com compulsão alimentar periódica eram mais jovens (20 a 39 anos) (53,5% vs. 30,2%; p=0,010) e tinham pior qualidade de vida (93,6± 19,6 vs. 104,3± 19,8; p=0,039). Quanto aos parâmetros laboratoriais, não foi observada diferença significativa entre os grupos. Conclusão: a presença de compulsão alimentar periódica foi achado frequente em mulheres mais jovens com síndrome metabólica, associada com pior qualidade de vida. Estes achados alertam para a importância do rastreio da compulsão alimentar periódica em indivíduos com síndrome metabólica para contribuir para manejo clínico mais adequado desta população.

Introduction: obesit y, one of the main components of metabolic syndrome, is frequently associated with binge eating. Objective: the aim of this study was to evaluate the occurrence of binge eating in women with metabolic syndrome and its possible association with sociodemographic, clinical, and behavioral parameters. Material and methods: a cross-sectional study with 124 individuals with metabolic syndrome, divided according to the presence or absence of binge eating, based on the criteria of the Binge Eating Scale (BES). We quantified weight, height, waist circumference, and office blood pressure. We evaluated behavioral parameters: level of physical activity, alcohol consumption, body image, depressive symptoms, and quality of life (SF-36). Laboratory evaluation included glucose, insulin, thyroid stimulating hormone, lipid profile, and renal function. The groups were compared by Chi-square and student t tests. Results: the mean age of the participants was 41±10.9 years and the entire cohort presented abdominal obesity, with an average waist circumference of 110±11.0 cm, while 70% of the individuals were hypertensive, with an overall mean systolic and diastolic blood pressure of 133±13.0 mmHg and 89±11.0 mmHg, respectively. In addition, 95% were sedentary, 7% were smokers, 12% abused alcohol, 98% declared dissatisfaction with body image, and 62% had depression. We observed the occurrence of binge eating in 57% of the women evaluated. The patients with binge eating were younger (20 to 39 years) (53,5% vs. 30,2%; p=0.010) and had worse quality of life (93,6± 19,6 vs. 104,3± 19,8; p=0.039). Regarding laboratory parameters, there were no significant differences between the groups. Conclusion: the occurrence of binge eating was a frequent finding in younger women with metabolic syndrome associated with worse quality of life. These findings alert to the importance of binge eating tracking in individuals with metabolic syndrome to contribute for a more appropriated clinical management of this population.

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Abstract Objective: To determine the influence of visual field results in the diagnosis of glaucoma. Methods: A questionnaire with ophthalmologists was conducted where slides of a digital photograph of the optic disc and computerized visual field exam were presented.(Physicians were instructed to answer whether glaucoma was observed in each of the slides). No other information was given to those examiners. Half of the patients had glaucoma with corresponding visual field, and the other half had physiological cupping and normal visual field. The slides were equally divided between retinography and corresponding visual field (same patient) and exams randomly exchanged, where an optic disc of glaucoma with a normal visual field was placed, and vice-versa. The order in which the slides were presented was also randomized. Results: Forty slides were evaluated by 29 ophthalmologists. No glaucoma specialist was included. The overall agreement among the examiners (Kappa) was 0.270 ± 0.281, and 0.261 ± 0.238 for the exams of the same eye and was 0.274 ± 0.217 from the slides with the exams changed (p=0.4). The diagnosis was made correctly in glaucoma patients with corresponding visual field exam in 66.89% of the cases, and in 66.20% of patients with physiological cupping. When the exams were exchanged, the results dropped to 34.13% and 35.86%, respectively (p<0.001 for both). Conclusion: Visual field results may influence the diagnosis of glaucoma by non-glaucoma specialists.

Resumo Objetivo: Avaliar a influência da campimetria computadorizada no diagnóstico do glaucoma. Métodos: Foi realizado questionário com oftalmologistas apresentando slides com uma fotografia digital de disco óptico e campo visual computadorizado. Os médicos deveriam assinalar se o exames apresentados eram de glaucoma ou não. Nenhuma outra informação foi passada para os examinadores. Metade dos pacientes apresentavam glaucoma com dano correspondente de campo visual, e a outra metade aumento fisiológico da escavação e campo visual normal. Os slides foram igualmente divididos em: retinografia e campo visual correspondentes (mesmo paciente) e exames invertidos de forma aleatória, colocando um disco óptico de glaucoma com um campo visual normal e vice-versa. A ordem de apresentação dos slides foi randomizada previamente. Resultados: Foram incluídos 40 slides, avaliados por 29 oftalmologistas. Nenhum especialista em glaucoma foi incluído. A concordância entre os examinadores (Kappa) foi de 0,270 ± 0,281, sendo de 0,261 ± 0,238 para os exames correspondentes e 0,274 ± 0,217 para os slides com os exames trocados (p=0,4). O diagnóstico foi realizado corretamente nos pacientes com glaucoma com o campo visual correspondente em 66,89% dos casos, e em 66,20% nos pacientes com aumento da escavação (normais). Quando houve a troca da correspondência dos exames, os valores caíram para 34,13% e 35,86%, respectivamente (p<0,001 para ambos). Conclusão: O conhecimento prévio dos resultados do campo visual pode influenciar o diagnóstico do glaucoma.

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Resumen Introducción: la deficiencia de lipasa ácida lisosomal (LAL-D) es una entidad de herencia autosómica recesiva que lleva a la acumulación de esteres de colesterol y triglicéridos en el hígado, bazo y otros órganos. La edad de inicio y la tasa de progresión son muy variables, lo que posiblemente sea explicado por las mutaciones presentes en el gen LIPA. Las manifestaciones clínicas son las mismas que para otras patologías hepáticas, cardiovasculares y metabólicas, lo que hace difícil reconocerla en la práctica clínica. Objetivo: proveer una guía que permita a los clínicos reconocer los principales grupos de riesgo en los cuales se debe sospechar de LAL-D y mejorar su diagnóstico. Metodología: este documento se diseñó como un consenso de expertos en el cual participaron médicos especialistas en gastroenterología, hepatología, endocrinología, genética, patología y pediatría. Se realizó una revisión de la literatura acerca de las manifestaciones clínicas y de las herramientas para el diagnóstico de LAL-D y se siguió la metodología de técnica de grupo nominal. Resultados: se generaron algoritmos diagnósticos por consenso para cada uno de los grupos de riesgo, que facilitaran la sospecha y el diagnóstico de LAL-D. Conclusiones: esta guía propone algoritmos para el diagnóstico de LAL-D con base en el consenso clínico, que buscan optimizar la ruta diagnóstica en los pacientes con dicha patología.

Abstract Introduction: Lysosomal acid lipase deficiency (LAL-D) is an inherited autosomal recessive entity that leads to the accumulation of cholesterol and triglyceride esters in the liver, spleen and other organs. The age of onset and rate of progression vary greatly, possibly explained by mutations of the LIPA gene. Clinical manifestations are the same as those of other hepatic, cardiovascular and metabolic pathologies which makes it difficult to recognize in clinical practice. Objective: The objectives of these guidelines is to help clinicians recognize the major groups at risk for LAL-D and to improve its diagnosis. Methodology: This document was designed as a consensus of experts in gastroenterology, hepatology, endocrinology, genetics, pathology and pediatrics. A review of the literature regarding clinical manifestations and tools for diagnosis of LAL-D was conducted and the nominal group technique was followed. Results: Diagnostic algorithms which facilitate suspicion and diagnosis of LAL-D were generated by consensus for each of the risk groups. Conclusions: This guide proposes algorithms for the diagnosis of LAL-D based on clinical consensus. The algorithms seek to optimize diagnosis for patients with this pathology.

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